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J Pediatr. 2012 Apr;160(4):700-702.e3. doi: 10.1016/j.jpeds.2011.12.001. Epub 2012 Jan 10.

Rapid and progressive pulmonary fibrosis in 2 families with DNA repair deficiencies of undetermined etiology.

Author information

  • 1Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. tjvece@texaschildrens.org

Abstract

Known genetic causes of pediatric interstitial lung disease include disorders of surfactant metabolism, telomerase, and DNA repair. We report 4 children from 2 families with rapidly progressive and fatal pulmonary fibrosis. A novel DNA repair defect unrelated to the ataxia-telangiectasia mutated gene was found in 1 child from each family.

Copyright © 2012 Mosby, Inc. All rights reserved.

PMID:
22240110
[PubMed - indexed for MEDLINE]
PMCID:
PMC4835171
Free PMC Article
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